Canonical Allele Identifier: CA1851897

Gene: GLI2

Linked Data

• dbSNP Id: rs150170739
• ExAC: 2:121736059 G / T
• gnomAD v2: 2-121736059-G-T
• gnomAD v3: 2-120978483-G-T
• gnomAD v4: 2-120978483-G-T
• COSMIC: COSM373000
• MyVariant Identifiers: chr2:g.121736059G>T (hg19) ; chr2:g.120978483G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.120978483G>T , CM000664.2:g.120978483G>T	GRCh38
NC_000002.11:g.121736059G>T , CM000664.1:g.121736059G>T	GRCh37
NC_000002.10:g.121452529G>T	NCBI36
NG_009030.1:g.186193G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361492.9:c.1367G>T MANE Select	ENSP00000354586.5:p.Arg456Leu
ENST00000452319.6:c.1418G>T	ENSP00000390436.1:p.Arg473Leu
ENST00000314490.15:c.431G>T	ENSP00000312694.12:p.Arg144Leu
ENST00000341310.10:c.*466G>T	ENSP00000344473.6:n.*466G>T
ENST00000361492.8:c.1418G>T	ENSP00000354586.4:p.Arg473Leu
ENST00000435313.6:n.1392G>T
ENST00000437950.5:c.*517G>T	ENSP00000415773.1:n.*517G>T
ENST00000438299.5:c.*517G>T	ENSP00000400593.1:n.*517G>T
ENST00000445186.5:c.*517G>T	ENSP00000397488.1:n.*517G>T
ENST00000452319.5:c.1418G>T	ENSP00000390436.1:p.Arg473Leu
ENST00000452692.5:c.*466G>T	ENSP00000403715.1:n.*466G>T
NM_005270.4:c.1418G>T	NP_005261.2:p.Arg473Leu
XM_006712422.1:c.1367G>T	XP_006712485.1:p.Arg456Leu
XM_011510969.1:c.1400G>T	XP_011509271.1:p.Arg467Leu
XM_011510970.1:c.1277G>T	XP_011509272.1:p.Arg426Leu
XM_011510971.1:c.1223G>T	XP_011509273.1:p.Arg408Leu
XM_011510972.1:c.1223G>T	XP_011509274.1:p.Arg408Leu
XM_011510973.1:c.1043G>T	XP_011509275.1:p.Arg348Leu
XM_011510974.1:c.992G>T	XP_011509276.1:p.Arg331Leu
XM_006712422.3:c.1367G>T	XP_006712485.1:p.Arg456Leu
XM_011510969.2:c.1670G>T	XP_011509271.2:p.Arg557Leu
XM_011510970.2:c.1277G>T	XP_011509272.1:p.Arg426Leu
XM_011510971.2:c.1223G>T	XP_011509273.1:p.Arg408Leu
XM_011510972.2:c.1319G>T	XP_011509274.2:p.Arg440Leu
XM_011510973.2:c.1043G>T	XP_011509275.1:p.Arg348Leu
XM_011510974.2:c.992G>T	XP_011509276.1:p.Arg331Leu
XM_017003818.1:c.1619G>T	XP_016859307.1:p.Arg540Leu
XM_024452794.1:c.1418G>T	XP_024308562.1:p.Arg473Leu
XM_024452795.1:c.1418G>T	XP_024308563.1:p.Arg473Leu
NM_001371271.1:c.1418G>T	NP_001358200.1:p.Arg473Leu
NM_001374353.1:c.1367G>T MANE Select	NP_001361282.1:p.Arg456Leu
NM_001374354.1:c.992G>T	NP_001361283.1:p.Arg331Leu
NM_005270.5:c.1418G>T	NP_005261.2:p.Arg473Leu